Mutations in DJ-1 are rare in familial Parkinson disease
| Autor: | Alice Rudolph, Michael W. Pauciulo, V. E. Elsaesser, Cheryl Halter, William C. Nichols, Diane K. Marek, Tatiana Foroud, Clifford W. Shults, Joanne Wojcieszek, Nathan Pankratz |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Protein Deglycase DJ-1 Glutamic Acid Locus (genetics) Biology Arginine Article Exon Parkinsonian Disorders medicine Missense mutation Humans Multiplex Multiplex ligation-dependent probe amplification RNA Messenger Aged Genetics Aged 80 and over Oncogene Proteins Reverse Transcriptase Polymerase Chain Reaction General Neuroscience Parkinsonism PARK7 Intracellular Signaling Peptides and Proteins Heterozygote advantage Exons Middle Aged medicine.disease Molecular biology Mutation Female Lod Score |
| Zdroj: | Neuroscience letters. 408(3) |
| ISSN: | 0304-3940 |
| Popis: | Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD. |
| Databáze: | OpenAIRE |
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